nsv3924532
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:30,849,470
- Description:GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 112022 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 111680 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 30805 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924532 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 241,605 | 31,091,074 |
| nsv3924532 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 191,605 | 30,948,590 |
| nsv3924532 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 181,605 | 31,068,132 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161792 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138831.6, VCV000149882.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161792 | Submitted genomic | NC_000008.11:g.(?_ 241605)_(31091074_ ?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 241,605 | 31,091,074 |
| nssv15161792 | Submitted genomic | NC_000008.10:g.(?_ 191605)_(30948590_ ?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 191,605 | 30,948,590 |
| nssv15161792 | Submitted genomic | NC_000008.9:g.(?_1 81605)_(31068132_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 181,605 | 31,068,132 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161792 | GRCh37: NC_000008.10:g.(?_191605)_(30948590_?)dup, GRCh38: NC_000008.11:g.(?_241605)_(31091074_?)dup, NCBI36: NC_000008.9:g.(?_181605)_(31068132_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138831.6, VCV000149882.2 | 3 |